Francis Collins

1995 AACC Lectureship Award

A Virginia native, Collins received his B.S. from the University of Virginia at Charlottesville, his M.S. and Ph.D. in chemistry from Yale University, and an M.D. from the University of North Carolina at Chapel Hill. After residency in internal medicine at the North Carolina Memorial Hospital and a fellowship in human genetics at Yale, he joined the faculty of the University of Michigan. There he moved swiftly through the academic ranks, becoming assistant professor of internal medicine and human genetics in 1984, associate professor in 1988, and professor in 1991. During that time, he was also chief of the Division of Medical Genetics in the Department of Internal Medicine, a Howard Hughes Medical Institute Investigator, and the Director of the Michigan Human Genome Center. In 1993, he was appointed director of the National Center for Human Genome Research at the National Institutes of Health, a 15-year project directed at mapping and sequencing all of the human genes.
Collins’ achievements have earned him a number of awards and honors, including Honorary Doctorate of Science degrees from Emory and Yale Universities, the Gairdner Foundation International Award, the Elizabeth Crosby Teaching Award, the Young Investigator Award of the American Federation for Clinical Research, and the Paul di Sant’Agnese Award of the Cystic Fibrosis Foundation. He has been an executive council member of the Human Genome Organization (HUGO) and a member of several other professional societies, including the prestigious Institute of Medicine, the American Association for the Advancement of Science, the NIH Advisory Council to the National Center for Human Genome Research, and the Association of American Physicians. He was elected to the National Academy of Sciences in 1993. He has served on the editorial boards of several scientific journals and chaired numerous committees and administrative services related to molecular genetics, cystic fibrosis, neurofibromatosis, and breast cancer.

Collins is widely known for his outstanding contributions to human genetics. Collins and his colleagues helped to develop and refine the technique of positional cloning, whereby a gene causing human disease is identified by genetic and physical mapping. Working with collaborators in Toronto, he applied this approach to identify the cystic fibrosis gene in August 1989. His research group also identified the neurofibromatosis gene in July 1990 and was part of an international collaborative effort that identified the Huntington disease gene in 1993. The understanding of all these disorders has progressed rapidly since then, and the potential for gene therapy is now considered quite real for cystic fibrosis. Collins and his colleagues are now searching for the genetic basis of adult-onset diabetes and prostate cancer, as well as studying hereditary factors in breast and ovarian cancer.